Ocular Manifestations of the Oculocerebrorenal Syndrome of Lowe
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Publisher
Springer Nature Singapore
Link
https://link.springer.com/content/pdf/10.1007/978-981-99-4436-1_7
Reference41 articles.
1. Lowe CU, Terrey M, MacLACHLAN EA. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952;83:164–84. https://doi.org/10.1001/archpedi.1952.02040060030004.
2. Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997;99:145–50. https://doi.org/10.1007/s004390050329.
3. Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. 2002;71:1420–7. https://doi.org/10.1086/344517.
4. Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J. From Lowe syndrome to dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011;32:379–88. https://doi.org/10.1002/humu.21391.
5. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NST, Abeysinghe S, Krawczak M, Cooper DN. Human gene mutation database (HGMD): 2003 update. Hum Mutat. 2003;21:577–81. https://doi.org/10.1002/humu.10212.
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